ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2382C>T (p.Ser794=) (rs56225585)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035329 SCV000058977 benign not specified 2011-03-09 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000035329 SCV000303013 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000309375 SCV000432899 benign Isolated Nonsyndromic Congenital Heart Disease 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000363883 SCV000432900 benign Arteriohepatic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000473408 SCV000557609 benign Alagille syndrome 1 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621245 SCV000735233 benign Cardiovascular phenotype 2015-08-04 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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